Canonical Allele Identifier: CA386878591

Gene: MED13L

Linked Data

• dbSNP Id: rs1178566504
• gnomAD v2: 12-116413087-T-C
• gnomAD v3: 12-115975282-T-C
• gnomAD v4: 12-115975282-T-C
• MyVariant Identifiers: chr12:g.116413087T>C (hg19) ; chr12:g.115975282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975282T>C , CM000674.2:g.115975282T>C	GRCh38
NC_000012.11:g.116413087T>C , CM000674.1:g.116413087T>C	GRCh37
NC_000012.10:g.114897470T>C	NCBI36
NG_023366.1:g.306905A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5620A>G MANE Select	ENSP00000281928.3:p.Ile1874Val
ENST00000548694.2:n.610A>G
ENST00000648379.1:n.3988A>G
ENST00000648737.1:n.5384A>G
ENST00000648825.1:n.3805A>G
ENST00000648916.1:n.3631A>G
ENST00000649607.1:c.3804A>G
ENST00000649775.1:c.2109A>G
ENST00000650226.1:c.5656A>G	ENSP00000496981.1:p.Ile1886Val
ENST00000281928.7:c.5620A>G	ENSP00000281928.3:p.Ile1874Val
ENST00000548694.1:n.610A>G
ENST00000552447.1:c.233A>G
NM_015335.4:c.5620A>G	NP_056150.1:p.Ile1874Val
XM_011538080.1:c.5656A>G	XP_011536382.1:p.Ile1886Val
XM_011538081.1:c.5653A>G	XP_011536383.1:p.Ile1885Val
XM_011538082.1:c.5626A>G	XP_011536384.1:p.Ile1876Val
XM_011538080.2:c.5656A>G	XP_011536382.1:p.Ile1886Val
XM_011538081.2:c.5653A>G	XP_011536383.1:p.Ile1885Val
XM_011538082.2:c.5626A>G	XP_011536384.1:p.Ile1876Val
XM_017019090.1:c.5617A>G	XP_016874579.1:p.Ile1873Val
NM_015335.5:c.5620A>G MANE Select	NP_056150.1:p.Ile1874Val